Ehlers-Danlos syndrome, Vascular type (type IV)

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Can people with Ehlers-Danlos syndrome, Vascular type (type IV) participate in sports?

While people who have Ehlers-Danlos syndrome, Vascular type (type IV) (vEDS) may have different experiences with the disorder, it is generally recommended that they avoid certain sports especially collision sports and isometric activities that have higher risks of trauma. Activities and sports like these included football, rugby, heavy weight lifting, and even soccer. Nevertheless, light/low impact physical activities and/or exercises such as swimming or Tai Chi are encouraged due to their ability to help minimize and ultimately spare the joints from serious injuries.

References
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What is the life expectancy for someone with vascular Ehlers-Danlos syndrome?

Should people with vascular Ehlers-Danlos syndrome have elective surgery?

Is pregnancy safe for women with vascular Ehlers-Danlos syndrome?

How can I donate money to vascular Ehlers-Danlos syndrome?

Tell me about the BBEST Trial for vascular Ehlers-Danlos syndrome?

Should I take a collagen supplement if I have vascular Ehlers-Danlos syndrome?

How can I tell first responders about my diagnosis of vascular Ehlers-Danlos syndrome if I have an emergency?

How can I start my own support group for vascular Ehlers-Danlos syndrome?

How do I find a genetic counselor to help me learn more about vascular Ehlers-Danlos syndrome?

Does celiprolol (Edsivo) treat vascular Ehlers-Danlos syndrome?

What is the life expectancy for someone with vascular Ehlers-Danlos syndrome?

The typical life expectancy for people with vascular Ehlers-Danlos syndrome is thought to be reduced. Two large studies found that the majority of individuals with vascular EDS had some sort of major complication related to the condition by the age of 30. The average age of survival was 50 years with a slightly reduced average age (by 5 years) in men than in females. This seemed to be due to a higher rate of deadly blood vessel ruptures in males than females before 20 years of age.

For children in these studies, the majority of children (60%) were diagnosed with vascular EDS before age 18 because of a family history of vascular EDS. Of children in the study who did not have a family history, several had a major complication of the condition at an average of 11-years-old.

References
  • Frank M., et. al. The Type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. Eur J Hum Genet. 2015;23:1657-64.
  • Pepin MG., et. al. Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). Genet Med. 2014;16:881-8.
Should people with vascular Ehlers-Danlos syndrome have elective surgery?

For people who have vascular Ehlers-Danlos syndrome (EDS), elective surgery should be avoided unless the benefit of surgery is expected to be substantial. In general, the avoidance of surgery in favor of more conservative management is advised because of tissue fragility causing a higher risk of surgical complications for individuals with vascular EDS.

References
Is pregnancy safe for women with vascular Ehlers-Danlos syndrome?

Although women living with vascular Ehlers-Danlos syndrome (EDS) have had successful pregnancies, pregnancy has often been actively discouraged for women with vascular Ehlers-Danlos syndrome (EDS) because of reported high risks of death. There is thought to be a 5% risk of death per pregnancy. Risks are higher if the diagnosis of vascular EDS is unknown before the mom gets pregnant. The main risk is the risk for uterine rupture. Other risks include prematurity, vaginal and cervical tears.

When the mother's diagnosis is known before she gets pregnant, there is an increase in practice to plan delivery by c-section at 36-38 weeks of pregnancy to try to avoid extensive tissue damage that can happen during vaginal delivery. C-section however, can be associated with an increased risk for hemorrhage and accidental damage to nearby abdominal organs. Pregnancy should be managed by an obstetrical team that includes high-risk pregnancy management with perinatology, maternal fetal medicine, and possibly general surgery.

References
How can I donate money to vascular Ehlers-Danlos syndrome?

The Ehlers-Danlos Society is a 501(c)3 nonprofit in the United States and is also registered as a charity in England and Wales. You can find details on how to donate at this link: https://www.ehlers-danlos.com/giving/

References
  • https://www.ehlers-danlos.com/giving/
Tell me about the BBEST Trial for vascular Ehlers-Danlos syndrome?

Beta-blockers are used for the treatment of high blood pressure, protein in the urine, angina (type of chest pain caused by reduced blood flow to the heart), and are standard of care therapy in individuals with aortic dissections like those seen in vascular Ehlers-Danlos syndrome (vEDS).

One beta-blocker used in Europe to manage blood pressure and to try to change the rate of arterial complications seen in vEDS is celiprolol (Edsivo). Although other beta-blockers are FDA approved in the U.S., currently Celiprolol is not FDA approved for use in United States.

The BBEST Trial is the "Beta-Blockers in Ehlers-Danlos Syndrome Treatment" Trial published in Europe in 2010. The study analyzed the use of celiprolol to see if it could help improve outcomes in patients with vEDS. In April 2019, the researchers responsible for the study published new results, which tracked vEDS patients on Celiprolol for up to 17 years. Celiprolol is the only beta-blocker medication that has been studied in a randomized clinical trial for vascular EDS. The BBESTtrial asked the question, "Compared to getting no treatment at all, does using Celiprolol decrease the number of vascular events?" It is because of this trial that some physicians, particularly those in European countries such as France, are now recommending the use of celiprolol for the treatment of vEDS.

Having said this, there is some debate within the community of doctors that study and treat vEDS. Some doctors feel that since celiprolol is the only medicine that has been studied in vEDS and because it showed a benefit in that study, that if you can be on celiprolol you should be. Other doctors feel that the Celiprolol study had flaws and that there are other beta-blockers available in the United States already which can work just as well.

Currently celiprolol is not available in United States, as it is not an FDA approved drug. There is a pharmaceutical company named Acer Therapeutics who is in the process of trying to get FDA approval for the drug in the United States. In 2019, Acer Therapeutics Inc. announced that the US Food and Drug Administration (FDA) had denied the company's New Drug Application (NDA) for celiprolol (Edsivo) for the the treatment of vEDS and called for an "adequate and well-controlled" trial to determine whether celiprolol reduced the risk of clinical events in patients with vEDS". Following this decision, Acer therapeutics conducted a Type A meeting ("immediately necessary for an otherwise stalled drug development program to proceed) with the FDA to discuss next steps.

Around the time of the FDA letter, the Ehlers-Danlos Society and professional members of the vEDS community released a consensus statement on celiprolol in August 9, 2019. They noted that there is not enough evidence to know for sure whether people with vEDS should take celiprolol or another medication to manage blood pressure and try to change the rate of arterial complications. Some medical centers with expertise in vEDS use celiprolol for their patients. Other medical centers with expertise in vEDS use other blood pressure medications. They recommended that since there is not one clear best option right now, people with vEDS should talk with their health care provider to create a plan based on their personal medical history.

References
Should I take a collagen supplement if I have vascular Ehlers-Danlos syndrome?

It is true that the main cause of the vascular and organ ruptures in vascular Ehlers-Danlos syndrome is due to abnormal or a reduced amount of procollagen III produced by the COL3A1 gene. However, taking a supplement will probably not help your body integrate the supplemental collagen into your bones. Accordingly, you should always consult with your doctors before starting or stopping any medications or supplements.

How can I tell first responders about my diagnosis of vascular Ehlers-Danlos syndrome if I have an emergency?

It is recommended that individuals living with vascular Ehlers-Danlos syndrome carry documentation of their diagnosis in case of a life-threatening emergency. One way of doing so is with a medical alert bracelet. MedicAlert Foundation is a 501(c)(3) non-profit organization that provides medical alert solutions for patients and training for health professionals to ensure the safety of patients during a medical emergency. You can visit the website and learn more about their products and services: www.medicalert.org.

Other companies offer similar products. You could also ask your doctors for a medical letter to carry in your purse or wallet that explains your condition and includes their contact information.

References
  • https://www.medicalert.org/
How can I start my own support group for vascular Ehlers-Danlos syndrome?

Starting a support group can help your friends and family better understand your diagnosis of vascular Ehlers-Danlos syndrome (vEDS). A local support group can also bring awareness of vEDS to your community and the opportunity to hold community events and raise funds for research and other projects. The Ehlers-Danlos Society provides a lot of great information about starting your own support group: www.ehlers-danlos.com/starting-and-running-an-eds-and-hsd-support-group.

References
  • https://www.ehlers-danlos.com/starting-and-running-an-eds-and-hsd-support-group/
How do I find a genetic counselor to help me learn more about vascular Ehlers-Danlos syndrome?

Genetic counselors can help you with a lot of different aspects of your vascular Ehlers-Danlos syndrome (vEDS) diagnosis. They can help you by ordering and coordinating genetic testing for yourself and other family members. They can also explain your genetic testing results. They can review clinical features of vEDS and provide anticipatory guidance on potential screening and management that might be recommended by your medical care team. Genetic counselors can also help you find good information and resources to further educate you on your condition, as well as, good resources to provide to family members, care givers, and physicians. It is important to understand that a lot of information on the internet about vEDS is out of date and/or misleading. To find a genetic counselor near you, go to the find a genetic counselor page on the National Society of Genetic Counselors website: www.nsgc.org/page/find-a-genetic-counselor.

References
  • https://www.nsgc.org/page/find-a-genetic-counselor
Does celiprolol (Edsivo) treat vascular Ehlers-Danlos syndrome?

Beta-blockers are used for the treatment of high blood pressure, protein in the urine, angina (type of chest pain caused by reduced blood flow to the heart), and are standard of care therapy in individuals with aortic dissections like those seen in vascular Ehlers-Danlos syndrome (vEDS).

One beta-blocker used in Europe to manage blood pressure and to try to change the rate of arterial complications seen in vEDS is celiprolol (Edsivo). In Europe, celiprolol (Edsivo) is considered the standard of care for vEDS in France and other European countries. Although other beta-blockers are FDA approved in the U.S., currently Celiprolol is not FDA approved for use in United States.

There is a pharmaceutical company named Acer Therapeutics who is in the process of trying to get FDA approval for the drug in the United States. In 2019, Acer Therapeutics Inc. announced that the US Food and Drug Administration (FDA) had denied the company's New Drug Application (NDA) for celiprolol (Edsivo) for the the treatment of vEDS and called for an "adequate and well-controlled" trial to determine whether celiprolol reduced the risk of clinical events in patients with vEDS". Following this decision, Acer therapeutics conducted a Type A meeting ("immediately necessary for an otherwise stalled drug development program to proceed) with the FDA to discuss next steps.

Following this FDA letter, the Ehlers-Danlos Society and professional members of the vEDS community released a consensus statement on celiprolol in August 9, 2019. They noted that there is not enough evidence to know for sure whether people with vEDS should take celiprolol or another medication to manage blood pressure to try to change the rate of arterial complications. Some medical centers with expertise in vEDS use celiprolol for their patients. Other medical centers with expertise in vEDS use other blood pressure medications. They recommended that since there is not one clear best option right now, people with vEDS should talk with their health care provider to create a plan based on their personal medical history.

References

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